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Year : 2020  |  Volume : 8  |  Issue : 1  |  Page : 161-162

Cerebrotendinous xanthomatosis: Clinical and neuroimaging findings

Department of Neurology, Pushpagiri Institute of Medical Sciences and Research Centre, Tiruvalla, Kerala, India

Date of Submission17-Dec-2019
Date of Decision25-Dec-2019
Date of Acceptance28-Dec-2019
Date of Web Publication20-Jun-2020

Correspondence Address:
Dr. S Sheetal
“Ushas” Muttathiparambu PO, Cherthala - 688 527, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/amhs.amhs_169_19

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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of effective bile acid biosynthesis (adult lipid storage disorder with the underlying mutation in the CYP27 gene, which encodes sterol 27-hydroxylase, a key enzyme in the conversion of cholesterol to the primary bile acids cholic and chenodeoxycholic acid). Hereby, we report the case of a 39-year-old male who presented with progressive walking difficulty, ataxia, and cognitive decline since childhood, who had cataract and tendon xanthomas on examination. Magnetic resonance imaging of the brain showed typical bilateral and symmetrical involvement of the dentate nuclei, characteristic of CTX.

Keywords: Cataract, cerebrotendinous xanthomatosis, dentate hyperintensity, tendon xanthomas

How to cite this article:
Sheetal S, Byju P. Cerebrotendinous xanthomatosis: Clinical and neuroimaging findings. Arch Med Health Sci 2020;8:161-2

How to cite this URL:
Sheetal S, Byju P. Cerebrotendinous xanthomatosis: Clinical and neuroimaging findings. Arch Med Health Sci [serial online] 2020 [cited 2022 Oct 2];8:161-2. Available from: https://www.amhsjournal.org/text.asp?2020/8/1/161/287352

  Case Description Top

A 39-year-old gentleman, with a history of chronic diarrhea since childhood, presented with features of cerebellar ataxia, peripheral neuropathy, and cognitive dysfunction (Mini–Mental State Examination score of 15/30). On examination, he had fusiform swellings of bilateral tendo-Achilles with generalized vitiligo [Figure 1]. Magnetic resonance imaging (MRI) brain (1.5 T) revealed cerebellar atrophy and symmetric T2 hyperintensities and T1 hypointensities in the dentate nuclei [Figure 2]. Laboratory investigations revealed normal total serum cholesterol and increased levels of plasma cholestanol and bile alcohols in urine. He did not undergo further investigations including genetic testing, ultrasonography of the ankle, biopsy from the tendon xanthomas, or carotid Doppler in view of financial constraints. The clinical features and imaging findings were suggestive of cerebrotendinous xanthomatosis (CTX). Clinically, CTX resembles Marinesco–Sjogren syndrome, characterized by the triad of cerebellar ataxia, congenital cataract, and mental retardation; however, tendon xanthomas are absent in this condition. Another differential for CTX is sitosterolemia as this condition is also characterized by tendon xanthomas, however primary neurologic signs and cataracts are not present.
Figure 1: Xanthomas involving the tendo-Achilles and vitiligo

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Figure 2: (a and b) Axial and coronal T2 sequences of magnetic resonance imaging brain showing hyperintensities involving bilateral dentate nuclei of the cerebellum. (c) Axial T1-weighted sequence showing hypointensities involving bilateral dentate nuclei of the cerebellum

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The combination of neurologic features, characteristic neuroimaging, and Achilles tendon xanthoma points to the diagnosis of CTX.[1],[2] The biochemical abnormalities of patients with CTX include elevated plasma cholestanol level and increased levels of bile alcohols in urine. It is quintessential to perform MRI whenever a clinical diagnosis of CTX is suspected because the T2 hyperintensities involving the dentate nuclei are the earliest abnormalities detected. Other MRI features described are T2-hyperintense signal abnormalities involving the thalami, midbrain, and adjacent deep cerebellar white matter.[3],[4] Early detection and diagnosis of CTX is crucial because early and long-term treatment with chenodeoxycholic acid improves neurological symptoms and even reverses the progression of the disease. However, an obvious delay between symptom onset and diagnosis is prevalent. This gap can be bridged by increasing the interdisciplinary awareness about the disease so that it can be diagnosed at an early stage and appropriate treatment can be initiated.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: A comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis 2014;9:179.  Back to cited text no. 1
Sandeep P, Jayakrishnan C, Sadanan S, Sreekumar S, Thulasidharan NK. Cerebrotendinous xanthomatosis: A treatable neurodegenerative disease. J Assoc Physicians India 2009;57:716-7.  Back to cited text no. 2
Gaikwad SB, Garg A, Mishra NK, Gupta V, Srivastava A, Sarkar C. Cerebrotendinous xanthomatosis: Neuroimaging findings in two siblings from an Indian family. Neurol India 2003;51:401-3.  Back to cited text no. 3
[PUBMED]  [Full text]  
Jha S, Khateeb M, Sonker K. Cerebrotendinous xanthomatosis, early diagnosis mandatory: Report of a case from North India. Neurol Asia 2008;13:125-8.  Back to cited text no. 4


  [Figure 1], [Figure 2]


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